The enzyme deficient in mucopolysaccharidosis (MPS) varies depending on the specific type of MPS. However, focusing on a general answer based on the reference provided:
In Mucopolysaccharidosis type I (MPS I), the deficient enzyme is alpha-L-iduronidase. This deficiency leads to the accumulation of dermatan and heparan sulfate within cells.
Different types of mucopolysaccharidoses result from deficiencies in different specific enzymes involved in the breakdown of glycosaminoglycans (GAGs), previously called mucopolysaccharides. Here is a breakdown of some types and the corresponding enzyme deficiencies:
| MPS Type | Deficient Enzyme | GAG Accumulation |
|---|---|---|
| MPS I | Alpha-L-iduronidase | Dermatan sulfate, Heparan sulfate |
| MPS II | Iduronate-2-sulfatase | Dermatan sulfate, Heparan sulfate |
| MPS IIIA | Heparan N-sulfatase | Heparan sulfate |
| MPS IIIB | Alpha-N-acetylglucosaminidase | Heparan sulfate |
| MPS IIIC | Acetyl-CoA:alpha-glucosaminide N-acetyltransferase | Heparan sulfate |
| MPS IIID | N-acetylglucosamine 6-sulfatase | Heparan sulfate |
| MPS IVA | Galactose-6-sulfatase | Keratan sulfate, Chondroitin-6-sulfate |
| MPS IVB | Beta-galactosidase | Keratan sulfate |
| MPS VI | Arylsulfatase B | Dermatan sulfate |
| MPS VII | Beta-glucuronidase | Dermatan sulfate, Heparan sulfate, Chondroitin sulfate |
| MPS IX | Hyaluronidase | Hyaluronan |
Early diagnosis of MPS is crucial for implementing timely treatment and improving patient outcomes.
